11. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. Issue 12 (22nd September 2017) Authors: Hillmer, Morten; Summerer, Anna; Mautner, Victor‐Felix; Högel, Josef; Cooper, David N.; Kehrer‐Sawatzki, Hildegard Journal: Human mutation Issue: Volume 38:Issue 12(2017) Page Start: 1711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Deciphering next-generation pharmacogenomics: an information technology perspective. Issue 7 (July 2014) Authors: Potamias, George; Lakiotaki, Kleanthi; Katsila, Theodora; Lee, Ming Ta Michael; Topouzis, Stavros; Cooper, David N.; Patrinos, George P. Journal: Open biology Issue: Volume 4:Issue 7(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families. Issue 10 (18th August 2014) Authors: Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico A.; Guipponi, Michel; Vannier, Anne; Béna, Frédérique; Gimelli, Stefania; Stathaki, Elisavet; Temtamy, Samia; Mégarbané, André; Masri, Amira; Aglan, Mona S.; Zaki, Maha S.; Bottani, Armand; Fokstuen, Siv; Gwanmesia, Lorraine; Aliferis, Konst... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. Issue 8 (17th June 2015) Authors: Su, Peiqiang; Wang, Ye; Cooper, David N.; Zhu, Wenjuan; Huang, Dongsheng; Férec, Claude; Wang, Yiming; Chen, Jian‐Min Journal: Human mutation Issue: Volume 36:Issue 8(2015:Aug.) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis. Issue 11 (21st August 2016) Authors: Boulling, Arnaud; Abrantes, Amandine; Masson, Emmanuelle; Cooper, David N.; Robaszkiewicz, Michel; Chen, Jian‐Min; Férec, Claude Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Distinct sequence features underlie microdeletions and gross deletions in the human genome. Issue 3 (1st February 2022) Authors: Qi, Mengling; Stenson, Peter D.; Ball, Edward V.; Tainer, John A.; Bacolla, Albino; Kehrer‐Sawatzki, Hildegard; Cooper, David N.; Zhao, Huiying Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. DNA polymerase η mutational signatures are found in a variety of different types of cancer. Issue 3 (1st February 2018) Authors: Rogozin, Igor B.; Goncearenco, Alexander; Lada, Artem G.; De, Subhajyoti; Yurchenko, Vyacheslav; Nudelman, German; Panchenko, Anna R.; Cooper, David N.; Pavlov, Youri I. Journal: Cell cycle Issue: Volume 17:Issue 3(2018) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Elucidating Common Structural Features of Human Pathogenic Variations Using Large‐Scale Atomic‐Resolution Protein Networks. Issue 5 (7th April 2014) Authors: Das, Jishnu; Lee, Hao Ran; Sagar, Adithya; Fragoza, Robert; Liang, Jin; Wei, Xiaomu; Wang, Xiujuan; Mort, Matthew; Stenson, Peter D.; Cooper, David N.; Yu, Haiyuan Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 585 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019) Authors: Lin, Jin‐Huan; Tang, Xin‐Ying; Boulling, Arnaud; Zou, Wen‐Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlène; Deng, Shun‐Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao‐Shen; ... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Issue 2 (28th December 2021) Authors: Hamada, Shin; Masson, Emmanuelle; Chen, Jian‐Min; Sakaguchi, Reiko; Rebours, Vinciane; Buscail, Louis; Matsumoto, Ryotaro; Tanaka, Yu; Kikuta, Kazuhiro; Kataoka, Fumiya; Sasaki, Akira; Le Rhun, Marc; Audin, Hela; Lachaux, Alain; Caumont, Bernard; Lorenzo, Diane; Billiemaz, Kareen; Besnard, Raphae... Journal: Human mutation Issue: Volume 43:Issue 2(2022) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗